A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554261



Internal ID22423125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18956175..18956175hg38UCSC Ensembl
chr13:19530315..19530315hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374127
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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